Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema–distichiasis syndrome: relationship to phenotype

Abstract

Abstract Objective: We describe a fetus with a 2.12-Mb in 16q terminal deletion which associated with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) and lymphedema–distichiasis syndrome (LDS); we also review other similar published studies and discuss the genetype-phenotype correlation.Methods: Amniotic fluid of the fetus was collected for karyotype analysis and copy number variation sequencing (CNV-seq) after informed consent.Results: The fetal karyotype was 46,XX; the result of CNV-seq showed that there was an approximately 2.12-Mb deletion in 16q24.1-q24.2 (85220000-87340000) indicating pathogenicity. Conclusion: Molecular genetic testing should be recommend as a first line diagnostic tool for suspected ACD/MPV and / or LDS or other genetic syndromes for the fetuses with structural abnormalities in clinical practice.